Product Details
- SNP ID
-
hCV27861893
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:154380010 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAAGAAAGAGGACGCTTTACTCTAC[C/T]AGAGCAAGGGTAAGGCAGGGGTTGG
- Phenotype
-
MIM: 300384
MIM: 300017
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
EMD
PubMed Links
Gene Details
- Gene
- EMD
- Gene Name
- emerin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000117.2 |
504 |
Nonsense Mutation |
CAG,TAG |
Q86* |
NP_000108.1 |
- Gene
- FLNA
- Gene Name
- filamin A
There are no transcripts associated with this gene.
- Gene
- LOC107987332
- Gene Name
- uncharacterized LOC107987332
There are no transcripts associated with this gene.
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